A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent stem cell line (ZZUNEUi020-A) generated from a patient with hypertrophic cardiomyopathy

Xiaowei Li; Wanrong Fu; Guangli Guo; Mengduan Liu; Wenting Du; Jing Zhao; Yangyang Liu; Lu Wang; Jianzeng Dong; Xiaoyan Zhao

doi:10.1016/j.scr.2021.102158

A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent stem cell line (ZZUNEUi020-A) generated from a patient with hypertrophic cardiomyopathy

Stem Cell Res. 2021 Mar:51:102158. doi: 10.1016/j.scr.2021.102158. Epub 2021 Jan 8.

Authors

Xiaowei Li¹, Wanrong Fu¹, Guangli Guo², Mengduan Liu¹, Wenting Du¹, Jing Zhao¹, Yangyang Liu¹, Lu Wang¹, Jianzeng Dong³, Xiaoyan Zhao⁴

Affiliations

¹ Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China.
² Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
³ Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, National Clinical Research Centre for Cardiovascular Diseases, No. 2 Beijing Anzhen Road, Chaoyang District, Beijing 100029, China. Electronic address: jzdong@zzu.edu.cn.
⁴ Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China. Electronic address: fcczhaoxy8@zzu.edu.cn.

PMID: 33453578
DOI: 10.1016/j.scr.2021.102158

Abstract

Hypertrophic cardiomyopathy (HCM) is a heterogeneous myocardial disease often caused by sarcomeric gene mutations. MYH7 is one of the most common genes associated with HCM. In this study, we generated a human induced pluripotent stem cell (iPSC) line ZZUNEUi020-A from peripheral blood mononuclear cells of a female HCM patient with the p. R719Q (c. 2156G > A) mutation in MYH7. This cell line expressed pluripotency markers, showed normal female karyotype and could differentiate into all three germ layers in vitro.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiac Myosins / genetics
Cardiomyopathy, Hypertrophic* / genetics
Female
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Mutation
Myosin Heavy Chains / genetics

Substances

MYH7 protein, human
Cardiac Myosins
Myosin Heavy Chains